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BLM BLM RecQ like helicase [ Homo sapiens (human) ]

Gene ID: 641, updated on 1-Jun-2020

Summary

Official Symbol
BLMprovided by HGNC
Official Full Name
BLM RecQ like helicaseprovided by HGNC
Primary source
HGNC:HGNC:1058
See related
Ensembl:ENSG00000197299 MIM:604610
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BS; RECQ2; RECQL2; RECQL3; MGRISCE1
Summary
The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]
Expression
Biased expression in salivary gland (RPKM 10.0), lymph node (RPKM 3.9) and 12 other tissues See more
Orthologs

Genomic context

See BLM in Genome Data Viewer
Location:
15q26.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (90717346..90816166)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91260579..91358686)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene CREB regulated transcription coactivator 3 Neighboring gene CRTC3 antisense RNA 1 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 1585 Neighboring gene uncharacterized LOC105370969 Neighboring gene Sharpr-MPRA regulatory region 4312 Neighboring gene RNA, 7SL, cytoplasmic 363, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of Bloom syndrome, RecQ helicase-like (BLM) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126616, MGC131618, MGC131620

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3'-5' DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
8-hydroxy-2'-deoxyguanosine DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
G-quadruplex DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Y-form DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
annealing helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
bubble DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
forked DNA-dependent helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
four-way junction DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
four-way junction helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
four-way junction helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
telomeric D-loop binding IDA
Inferred from Direct Assay
more info
PubMed 
telomeric G-quadruplex DNA binding IC
Inferred by Curator
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA double-strand break processing IDA
Inferred from Direct Assay
more info
PubMed 
DNA duplex unwinding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA duplex unwinding IDA
Inferred from Direct Assay
more info
PubMed 
DNA recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA recombination NAS
Non-traceable Author Statement
more info
PubMed 
DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA repair NAS
Non-traceable Author Statement
more info
PubMed 
DNA replication ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA replication TAS
Traceable Author Statement
more info
 
DNA strand renaturation IEA
Inferred from Electronic Annotation
more info
 
DNA unwinding involved in DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-quadruplex DNA unwinding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-quadruplex DNA unwinding IDA
Inferred from Direct Assay
more info
PubMed 
G-quadruplex DNA unwinding ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to camptothecin IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to hydroxyurea IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair via homologous recombination NAS
Non-traceable Author Statement
more info
PubMed 
mitotic G2 DNA damage checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of DNA recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell division IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of DNA-dependent DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cyclin-dependent protein serine/threonine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
replication fork processing IDA
Inferred from Direct Assay
more info
PubMed 
replication fork protection NAS
Non-traceable Author Statement
more info
PubMed 
response to X-ray IDA
Inferred from Direct Assay
more info
PubMed 
t-circle formation TAS
Traceable Author Statement
more info
PubMed 
telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomeric D-loop disassembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
PML body IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with PML body IDA
Inferred from Direct Assay
more info
PubMed 
chromosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
lateral element IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
replication fork ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
Bloom syndrome protein
Names
Bloom syndrome RecQ like helicase
Bloom syndrome, RecQ helicase-like
DNA helicase, RecQ-like type 2
recQ protein-like 3
NP_000048.1
NP_001274175.1
NP_001274176.1
NP_001274177.1
XP_006720695.1
XP_011520183.1
XP_011520184.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007272.1 RefSeqGene

    Range
    4957..103091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_20

mRNA and Protein(s)

  1. NM_000057.4NP_000048.1  Bloom syndrome protein isoform 1

    See identical proteins and their annotated locations for NP_000048.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest protein (isoform 1). Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC124248, BC034480, BC062697, BC115030, CD707743, U39817
    Consensus CDS
    CCDS10363.1
    UniProtKB/Swiss-Prot
    P54132
    Related
    ENSP00000347232.3, ENST00000355112.8
    Conserved Domains (9) summary
    smart00341
    Location:12131292
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:6571143
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:861992
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:669841
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:372409
    BDHCT; BDHCT (NUC031) domain
    pfam09382
    Location:10721189
    RQC; RQC domain
    pfam16124
    Location:9971066
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16202
    Location:1366
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:425647
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
  2. NM_001287246.2NP_001274175.1  Bloom syndrome protein isoform 1

    See identical proteins and their annotated locations for NP_001274175.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC124248, BC115032, BC143288, BP363946, CD707743, DB520927
    Consensus CDS
    CCDS10363.1
    UniProtKB/Swiss-Prot
    P54132
    Conserved Domains (9) summary
    smart00341
    Location:12131292
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:6571143
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:861992
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:669841
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:372409
    BDHCT; BDHCT (NUC031) domain
    pfam09382
    Location:10721189
    RQC; RQC domain
    pfam16124
    Location:9971066
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16202
    Location:1366
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:425647
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
  3. NM_001287247.2NP_001274176.1  Bloom syndrome protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC124248, BC062697, BC101567, BC115028, CD707743, DB520927
    Consensus CDS
    CCDS73782.1
    UniProtKB/Swiss-Prot
    P54132
    UniProtKB/TrEMBL
    H0YNU5
    Related
    ENSP00000454158.1, ENST00000560509.5
    Conserved Domains (8) summary
    TIGR00614
    Location:6571123
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:861992
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:669841
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:372409
    BDHCT; BDHCT (NUC031) domain
    pfam16124
    Location:9971066
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16202
    Location:1366
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:425647
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
    cl02578
    Location:11091161
    HRDC; HRDC domain
  4. NM_001287248.2NP_001274177.1  Bloom syndrome protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in a 5' exon and uses a downstream translation start compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC021422, AC124248, BC062697, BC115032, BC143280, CD707743, DA122319, DB520927
    UniProtKB/Swiss-Prot
    P54132
    UniProtKB/TrEMBL
    B7ZKN7
    Conserved Domains (8) summary
    smart00341
    Location:838917
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:282768
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:486617
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:294466
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:134
    BDHCT; BDHCT (NUC031) domain
    pfam09382
    Location:697814
    RQC; RQC domain
    pfam16124
    Location:622691
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16204
    Location:50272
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    90717346..90816166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521882.3XP_011520184.1  Bloom syndrome protein isoform X1

    Conserved Domains (4) summary
    pfam00270
    Location:669841
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:372409
    BDHCT; BDHCT (NUC031) domain
    pfam16202
    Location:1366
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:425647
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
  2. XM_011521881.2XP_011520183.1  Bloom syndrome protein isoform X2

    Conserved Domains (7) summary
    smart00341
    Location:775854
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:219705
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:423554
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:231403
    DEAD; DEAD/DEAH box helicase
    pfam09382
    Location:634751
    RQC; RQC domain
    pfam16124
    Location:559628
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16204
    Location:1209
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
  3. XM_006720632.2XP_006720695.1  Bloom syndrome protein isoform X3

    Conserved Domains (6) summary
    smart00341
    Location:559638
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:3489
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:207338
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:15187
    DEAD; DEAD/DEAH box helicase
    pfam09382
    Location:418535
    RQC; RQC domain
    pfam16124
    Location:343412
    RecQ_Zn_bind; RecQ zinc-binding
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